Karyotyping

Karyotyping is pictorial depiction of chromosomes.It describes the number,look,position,banding,physical character,difference between sex chromosomes.It is usually two sets of chromosomes 23 each and 46 in total.

Karyotype can be done pre natal via amniotic fluid and post birth via blood sample to confirm genetic diseases

like down syndrome. karyotyping comes under the branch of cytogenetics. It can even detect any chromosomal 

abnormality which may or may not pass to their child.Chromosomal defects that can cause infertility or miscarriages can be pre detected.If causes of still birth and disability are genetic ,then it can be identified prior.

Sex chromosomal issues can also sorted but it may not be allowed in all countries to determine sex of foetus.

Chronic illness like cancer therapies are also decided by genetic studies.Abnormal chromosomal study can be

useful in various genetic threats.

Down Syndrome Screening

Down syndrome is a genetic condition that can be screened prenatal or confirmed through diagnostic tools post natal.Prenatal initial screening can be done as early as

12 weeks when nasal bone and nuchal translucency scan can be done by ultrasonic 

investigations and if screening comes high risk,then chorionic villus sampling can be 

early diagnostic method.Double Marker,Triple Marker and Quadraple Markers are blood markers that pathologically rules out the risk. The last confirmatory test comes out to be amniocentesis.Amniocentesis is the most near to confirmatory test one can go through to rule out the down syndrome status of unborn child.The confirmatory tests like chorionic villus sampling and amniocentesis carry risk of loosing the pregnancy.But this risk is always less than the risk to face the hardship to become parents of a compromised child.